Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

被引：46

作者：

Byrne, Susan ^{[1
]}

Heverin, Mark ^{[1
]}

Elamin, Marwa ^{[1
]}

Walsh, Cathal ^{[2
]}

Hardiman, Orla ^{[1
]}

机构：

[1] Trinity Coll Dublin, Trinity Biomed Sci Inst, Acad Div Neurol, Dublin, Ireland

[2] Trinity Coll Dublin, Trinity Biomed Sci Inst, Dept Stat, Dublin, Ireland

来源：

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION | 2014年 / 15卷 / 1-2期

关键词：

HEXANUCLEOTIDE REPEAT;

D O I：

10.3109/21678421.2013.838586

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia. All studies to date state that patients have a pathological expansion if they carry 30 or more repeats. We analysed the frequency of C9orf72 repeat expansions in a population based cohort of patients with ALS, and demonstrate that patients with between 20 and 30 repeats are phenotypically similar to patients with an expanded repeat length above 30 repeats. We propose that an intermediate repeat length may be associated with features of the C9orf72 phenotype in ALS patients.

引用

页码：148 / 150

页数：3

共 13 条

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